Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU

Aldámiz‐Echevarría, Luis; Bueno, María; Couce, María L.; Lage, Sergio; Dalmau, Jaime; Vitoria, Isidro; Andrade, Fernando; Llarena, Marta; Blasco, Javier; Alcalde, Carlos Losilla; Gil, David; García, María C.; González‐Lamuño, Domingo; Ruiz, Mónica; Ruiz, María Ángeles; González, D.; Sánchez-Valverde, F.

doi:10.1016/j.ymgme.2013.05.017

Cited by 23 publications

(20 citation statements)

References 30 publications

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“…We did not include studies conducted on patients treated with BH4, which is also associated with increased natural protein intake according to patient’s tolerance. However, evidence from literature about the effects of BH4 treatment on growth has shown inconsistent results [50,51,52]. Some of these studies included very small sample sizes and short follow-up periods.…”

Section: Discussionmentioning

confidence: 99%

Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis

et al. 2019

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There is an ongoing debate regarding the impact of phenylketonuria (PKU) and its treatment on growth. To date, evidence from studies is inconsistent, and data on the whole developmental period is limited. The primary aim of this systematic review was to investigate the effects of a phenylalanine (Phe)-restricted diet on long-term growth in patients with PKU. Four electronic databases were searched for articles published until September 2018. A total of 887 results were found, but only 13 articles met eligibility criteria. Only three studies had an adequate methodology for meta-analysis. Although the results indicate normal growth at birth and during infancy, children with PKU were significantly shorter and had lower weight for age than reference populations during the first four years of life. Impaired linear growth was observed until the end of adolescence in PKU. In contrast, growth impairment was not reported in patients with mild hyperphenylalaninemia, not requiring dietary restriction. Current evidence indicates that even with advances in dietary treatments, “optimal” growth outcomes are not attained in PKU. The majority of studies include children born before 1990s, so further research is needed to show the effects of recent dietary practices on growth in PKU.

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Section: Discussionmentioning

confidence: 99%

Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis

et al. 2019

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“…Two retrospective cohort studies with 1–5 years follow‐up period compared long‐term outcomes between sapropterin and Phe‐restricted diet groups. One study of PKU patients under 17 years old collected data over a period of 2 or 5 years.…”

Section: Discussionmentioning

confidence: 99%

Efficacy and safety of sapropterin dihydrochloride in patients with phenylketonuria: A meta‐analysis of randomized controlled trials

Yang

Wang

et al. 2019

Brit J Clinical Pharma

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Aims The aim of the present meta‐analysis was to evaluate the efficacy and safety of sapropterin dihydrochloride in phenylketonuria (PKU) patients. Methods The following databases were searched for randomized controlled trials (RCT) regarding PKU patients treated with sapropterin dihydrochloride: PubMed, Embase, Cochrane Library and clinicaltrials. Two authors independently selected studies, assessed the risk of bias and extracted data. The meta‐analysis was performed in RevMan 5.3 provided by the Cochrane Collaboration. Results Four studies met the inclusion criteria. In PKU patients with low blood phenylalanine (Phe) concentration, no significant difference was indicated for the decrease of Phe level (weighted mean difference (WMD) = −7.75 μmol L−1; 95% confidence intervals (CI): −82.63 to 67.13, P = 0.84, I2 = 0%), however, the dietary Phe tolerance was significantly improved in the sapropterin group (WMD = 19.89 mg kg−1 d−1; 95% CI: 10.26 to 29.52, P < 0.0001, I2 = 0%). In PKU patients with high blood Phe level, sapropterin showed a significant lowering in blood Phe concentration (WMD = −225.31 μmol L−1; 95% CI: −312.28 to −138.34, P < 0.00001, I2 = 0%). There was no significant difference for adverse events. Conclusions Sapropterin could bring benefit for PKU patients with high or low Phe level, due to Phe reduction in a short time or dietary Phe tolerance improvement respectively. Sapropterin has an acceptable safety profile.

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“…The diet is socially burdensome for many individuals and may hinder physical growth. 8 It requires avoidance of meat, fish, dairy products, nuts, beans, and other protein-containing foods. Only measured amounts of Phe-containing intact protein are allowed from fruits, vegetables, breads, and other starchy foods.…”

Section: Introductionmentioning

confidence: 99%